List of variants in gene SMARCA4 studied for SMARCA4-related BAFopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)	rs2145970607
NM_003072.5(SMARCA4):c.1658T>G (p.Leu553Arg)	rs2145971047
NM_003072.5(SMARCA4):c.1702G>C (p.Val568Leu)	rs1431755388
NM_003072.5(SMARCA4):c.2617-10G>T	rs2146414345
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)	rs2146416371
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)	rs1600278307
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)	rs778175819
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3275T>G (p.Leu1092Arg)	rs2146543069
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	rs770680174

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.